NLSDM
MCID: NTR007
MIFTS: 42

Neutral Lipid Storage Disease with Myopathy (NLSDM)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neutral Lipid Storage Disease with Myopathy

MalaCards integrated aliases for Neutral Lipid Storage Disease with Myopathy:

Name: Neutral Lipid Storage Disease with Myopathy 57 20 43 72 36 13 70
Nlsdm 57 20 43 58 72
Neutral Lipid Storage Disease Without Ichthyosis 57 20 43 72
Neutral Lipid Storage Myopathy 58 29 6
Neutral Lipid Storage Disease with Myopathy Without Ichthyosis 58
Lipid, Neutral, Storage Disease with Myopathy 39
Triglyceride Storage Disease with Ichthyosis 70

Characteristics:

Orphanet epidemiological data:

58
neutral lipid storage myopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
variable severity
slowly progressive
cardiomyopathy may develop later in the disease
heterozygous mutation carriers may show mild symptoms

Inheritance:
autosomal recessive


HPO:

31
neutral lipid storage disease with myopathy:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Neutral Lipid Storage Disease with Myopathy

OMIM® : 57 Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011). Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007). (610717) (Updated 20-May-2021)

MalaCards based summary : Neutral Lipid Storage Disease with Myopathy, also known as nlsdm, is related to lipidosis with triglycerid storage disease and myopathy, and has symptoms including ataxia, muscle weakness and myalgia. An important gene associated with Neutral Lipid Storage Disease with Myopathy is PNPLA2 (Patatin Like Phospholipase Domain Containing 2), and among its related pathways/superpathways is Regulation of lipolysis in adipocytes. The drugs Bezafibrate and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, pancreas and skeletal muscle, and related phenotypes are progressive proximal muscle weakness and increased intramyocellular lipid droplets

MedlinePlus Genetics : 43 Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. People with this condition have muscle weakness (myopathy) due to the accumulation of fats in muscle tissue. Other features of this condition may include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid activity (hypothyroidism), and type 2 diabetes (the most common form of diabetes). Signs and symptoms of neutral lipid storage disease with myopathy vary greatly among affected individuals.

GARD : 20 Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern. There is currently no treatment to correct the underlying metabolic problem.

KEGG : 36 Neutral lipid storage disease (NLSD) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSD, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2).

UniProtKB/Swiss-Prot : 72 Neutral lipid storage disease with myopathy: Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride- containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells.

Related Diseases for Neutral Lipid Storage Disease with Myopathy

Diseases related to Neutral Lipid Storage Disease with Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 lipidosis with triglycerid storage disease 11.2
2 myopathy 10.9
3 lipid storage disease 10.9
4 non-alcoholic fatty liver disease 10.3
5 ichthyosis 10.3
6 muscular lipidosis 10.3
7 triglyceride deposit cardiomyovasculopathy 10.3
8 metabolic myopathy 10.3
9 hypertriglyceridemia, familial 10.2
10 chanarin-dorfman syndrome 10.2
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
12 autosomal recessive disease 10.2
13 sensorineural hearing loss 10.2
14 hypertrophic cardiomyopathy 10.2
15 dilated cardiomyopathy 10.2
16 lipid metabolism disorder 10.2
17 muscular atrophy 10.2
18 polyhydramnios 10.2
19 hypotonia 10.2

Graphical network of the top 20 diseases related to Neutral Lipid Storage Disease with Myopathy:



Diseases related to Neutral Lipid Storage Disease with Myopathy

Symptoms & Phenotypes for Neutral Lipid Storage Disease with Myopathy

Human phenotypes related to Neutral Lipid Storage Disease with Myopathy:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009073
2 increased intramyocellular lipid droplets 58 31 hallmark (90%) Very frequent (99-80%) HP:0012240
3 fatty replacement of skeletal muscle 58 31 hallmark (90%) Very frequent (99-80%) HP:0012548
4 shoulder girdle muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003547
5 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
6 hypertriglyceridemia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002155
7 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
8 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
9 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
10 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
11 pelvic girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003749
12 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
13 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
14 very long chain fatty acid accumulation 58 31 frequent (33%) Frequent (79-30%) HP:0008167
15 cardiomyopathy 58 31 occasional (7.5%) Frequent (79-30%) HP:0001638
16 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
17 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
18 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
19 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
20 increased lactate dehydrogenase level 31 frequent (33%) HP:0025435
21 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
22 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
23 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
24 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
25 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
26 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
27 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
28 rimmed vacuoles 58 31 occasional (7.5%) Occasional (29-5%) HP:0003805
29 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
30 generalized limb muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009055
31 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
32 hand muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0030237
33 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
34 progressive distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009063
35 chronic pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006280
36 cholecystitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001082
37 pineal cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0012683
38 delayed ability to walk 31 very rare (1%) HP:0031936
39 ichthyosis 58 Excluded (0%)
40 obesity 58 Excluded (0%)
41 elevated serum creatine kinase 31 HP:0003236
42 abnormal levels of creatine kinase in blood 58 Frequent (79-30%)
43 proximal muscle weakness 31 HP:0003701
44 increased muscle lipid content 31 HP:0009058
45 exercise intolerance 31 HP:0003546
46 increased lactate dehydrogenase activity 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
myopathy
easy fatigability
fasciculations
difficulty walking
gowers sign
more
Growth Height:
short stature (in some patients)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Cardiovascular Heart:
cardiomyopathy (in some patients)

Head And Neck Neck:
neck muscle weakness (in some patients)

Neurologic Central Nervous System:
delayed walking (rare)

Abdomen Liver:
hepatic steatosis
abnormal liver enzymes
hepatomegaly (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase
abnormal liver enzymes
accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes
lipid vacuoles in leukocytes (jordan bodies)
increased serum triglycerides (in some patients)

Neurologic Peripheral Nervous System:
areflexia (in some patients)

Endocrine Features:
diabetes mellitus (in some patients)

Skin Nails Hair Skin:
no ichthyosis

Clinical features from OMIM®:

610717 (Updated 20-May-2021)

UMLS symptoms related to Neutral Lipid Storage Disease with Myopathy:


ataxia; muscle weakness; myalgia; muscular fasciculation

Drugs & Therapeutics for Neutral Lipid Storage Disease with Myopathy

Drugs for Neutral Lipid Storage Disease with Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Hypolipidemic Agents Phase 4
3 Clofibric Acid Phase 4 882-09-7
4 Antimetabolites Phase 4
5 Lipid Regulating Agents Phase 4
6 Anticholesteremic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M) Terminated NCT02830763

Search NIH Clinical Center for Neutral Lipid Storage Disease with Myopathy

Genetic Tests for Neutral Lipid Storage Disease with Myopathy

Genetic tests related to Neutral Lipid Storage Disease with Myopathy:

# Genetic test Affiliating Genes
1 Neutral Lipid Storage Myopathy 29 PNPLA2

Anatomical Context for Neutral Lipid Storage Disease with Myopathy

MalaCards organs/tissues related to Neutral Lipid Storage Disease with Myopathy:

40
Bone Marrow, Pancreas, Skeletal Muscle, Liver, Pineal, Heart, Endothelial

Publications for Neutral Lipid Storage Disease with Myopathy

Articles related to Neutral Lipid Storage Disease with Myopathy:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. 61 57 6
22832386 2012
2
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. 61 57 6
17187067 2007
3
Symptomatic lipid storage in carriers for the PNPLA2 gene. 6 57
23232698 2013
4
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. 6 57
21544567 2011
5
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. 6 57
17657808 2007
6
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM. 61 6
28391974 2017
7
Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. 61 6
23449549 2013
8
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function. 6 61
22990388 2012
9
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients. 6
28499397 2017
10
[Unusual phenotype of myopathy associated with a new PNPLA2 mutation]. 6
27869069 2016
11
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. 6
18445597 2008
12
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly. 61
33303358 2021
13
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy. 61
33569515 2021
14
Neutral lipid-storage disease with myopathy and Jordan anomaly. 61
32759194 2020
15
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy. 61
31729045 2020
16
Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy. 61
33551761 2020
17
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. 61
32564019 2020
18
Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report. 61
32269696 2020
19
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study. 61
31655616 2019
20
Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy. 61
30738494 2019
21
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function. 61
30795549 2019
22
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis. 61
30352762 2018
23
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy. 61
30223778 2018
24
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant. 61
29779757 2018
25
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China. 61
29539587 2018
26
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement. 61
28258942 2017
27
Analysis of lipid profile in lipid storage myopathy. 61
27428459 2016
28
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. 61
26600210 2016
29
Hypophagia and metabolic adaptations in mice with defective ATGL-mediated lipolysis cause resistance to HFD-induced obesity. 61
26508640 2015
30
Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A. 61
25363365 2015
31
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings. 61
25956450 2015
32
A myopathy with unusual features caused by PNPLA2 gene mutations. 61
25287355 2015
33
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse. 61
25512002 2015
34
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. 61
24836204 2014
35
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. 61
27896096 2014
36
Metabolic consequences of adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease with myopathy. 61
23824421 2013
37
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. 61
23333026 2013
38
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. 61
23146629 2013
39
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. 61
22964912 2012
40
Blocked muscle fat oxidation during exercise in neutral lipid storage disease. 61
22491199 2012
41
Reduced expression of adipose triglyceride lipase enhances tumor necrosis factor alpha-induced intercellular adhesion molecule-1 expression in human aortic endothelial cells via protein kinase C-dependent activation of nuclear factor-kappaB. 61
21828047 2011
42
Lipid storage myopathy. 61
21046290 2011
43
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 61
20370797 2010
44
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population. 61
21170305 2010
45
A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. 61
21073837 2010
46
State of the art in muscle lipid diseases. 61
21314018 2010
47
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. 61
20471263 2010
48
Characterization of desnutrin functional domains: critical residues for triacylglycerol hydrolysis in cultured cells. 61
19692632 2010
49
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. 61
19401457 2009
50
Clinical and genetic analysis of lipid storage myopathies. 61
19208393 2009

Variations for Neutral Lipid Storage Disease with Myopathy

ClinVar genetic disease variations for Neutral Lipid Storage Disease with Myopathy:

6 (show top 50) (show all 232)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PNPLA2 NM_020376.4(PNPLA2):c.808del (p.His270fs) Deletion Pathogenic 1873 rs796065303 GRCh37: 11:823740-823740
GRCh38: 11:823740-823740
2 PNPLA2 NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu) SNV Pathogenic 1874 rs121918259 GRCh37: 11:822494-822494
GRCh38: 11:822494-822494
3 PNPLA2 NM_020376.4(PNPLA2):c.847del (p.Gln283fs) Deletion Pathogenic 1875 rs796065304 GRCh37: 11:823781-823781
GRCh38: 11:823781-823781
4 PNPLA2 NM_020376.4(PNPLA2):c.865C>T (p.Gln289Ter) SNV Pathogenic 1876 rs121918260 GRCh37: 11:823801-823801
GRCh38: 11:823801-823801
5 PNPLA2 NM_020376.4(PNPLA2):c.757+2T>C SNV Pathogenic 39865 rs777539013 GRCh37: 11:823589-823589
GRCh38: 11:823589-823589
6 PNPLA2 NM_020376.4(PNPLA2):c.749A>C (p.Gln250Pro) SNV Pathogenic 39866 rs397514625 GRCh37: 11:823579-823579
GRCh38: 11:823579-823579
7 PNPLA2 NM_020376.4(PNPLA2):c.757+1G>T SNV Pathogenic 39867 rs869320738 GRCh37: 11:823588-823588
GRCh38: 11:823588-823588
8 PNPLA2 NM_020376.4(PNPLA2):c.467del (p.Pro156fs) Deletion Pathogenic 39868 rs796065307 GRCh37: 11:822002-822002
GRCh38: 11:822002-822002
9 PNPLA2 NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) Duplication Pathogenic 65419 rs796065308 GRCh37: 11:822522-822523
GRCh38: 11:822522-822523
10 PNPLA2 NM_020376.4(PNPLA2):c.543del (p.Ile182fs) Deletion Pathogenic 65420 rs796065309 GRCh37: 11:822452-822452
GRCh38: 11:822452-822452
11 PNPLA2 NM_020376.4(PNPLA2):c.467_470CTCC[4] (p.Gln160fs) Microsatellite Pathogenic 65421 rs796065310 GRCh37: 11:822000-822001
GRCh38: 11:822000-822001
12 PNPLA2 NM_020376.4(PNPLA2):c.1043del (p.Phe348fs) Deletion Pathogenic 567557 rs1565089992 GRCh37: 11:824120-824120
GRCh38: 11:824120-824120
13 PNPLA2 NM_020376.4(PNPLA2):c.798dup (p.Ala267fs) Duplication Pathogenic 944262 GRCh37: 11:823728-823729
GRCh38: 11:823728-823729
14 PNPLA2 NM_020376.4(PNPLA2):c.662G>C (p.Arg221Pro) SNV Pathogenic 663841 rs554737718 GRCh37: 11:822572-822572
GRCh38: 11:822572-822572
15 PNPLA2 NM_020376.4(PNPLA2):c.32C>T (p.Ser11Leu) SNV Likely pathogenic 977522 GRCh37: 11:819750-819750
GRCh38: 11:819750-819750
16 PNPLA2 NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) SNV Conflicting interpretations of pathogenicity 772343 rs552415591 GRCh37: 11:822507-822507
GRCh38: 11:822507-822507
17 PNPLA2 NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) SNV Conflicting interpretations of pathogenicity 790222 rs201894536 GRCh37: 11:823742-823742
GRCh38: 11:823742-823742
18 PNPLA2 NM_020376.4(PNPLA2):c.165G>T (p.Ala55=) SNV Conflicting interpretations of pathogenicity 710527 rs761885395 GRCh37: 11:819883-819883
GRCh38: 11:819883-819883
19 PNPLA2 NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser) SNV Conflicting interpretations of pathogenicity 431910 rs140634178 GRCh37: 11:824624-824624
GRCh38: 11:824624-824624
20 PNPLA2 NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) SNV Conflicting interpretations of pathogenicity 534200 rs1434319423 GRCh37: 11:824838-824838
GRCh38: 11:824838-824838
21 PNPLA2 NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=) SNV Conflicting interpretations of pathogenicity 698167 rs147314508 GRCh37: 11:822402-822402
GRCh38: 11:822402-822402
22 PNPLA2 NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe) SNV Conflicting interpretations of pathogenicity 306307 rs202081894 GRCh37: 11:824567-824567
GRCh38: 11:824567-824567
23 PNPLA2 NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) SNV Conflicting interpretations of pathogenicity 261241 rs142174851 GRCh37: 11:821809-821809
GRCh38: 11:821809-821809
24 PNPLA2 NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) SNV Conflicting interpretations of pathogenicity 306302 rs141190104 GRCh37: 11:823839-823839
GRCh38: 11:823839-823839
25 PNPLA2 NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) SNV Conflicting interpretations of pathogenicity 306297 rs200897893 GRCh37: 11:822501-822501
GRCh38: 11:822501-822501
26 PNPLA2 NM_020376.4(PNPLA2):c.399C>T (p.Asn133=) SNV Conflicting interpretations of pathogenicity 306295 rs143992505 GRCh37: 11:821839-821839
GRCh38: 11:821839-821839
27 PNPLA2 NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) SNV Conflicting interpretations of pathogenicity 306299 rs140959695 GRCh37: 11:823577-823577
GRCh38: 11:823577-823577
28 PNPLA2 NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) SNV Conflicting interpretations of pathogenicity 306303 rs886048710 GRCh37: 11:823848-823848
GRCh38: 11:823848-823848
29 PNPLA2 NM_020376.4(PNPLA2):c.487-8C>T SNV Conflicting interpretations of pathogenicity 261242 rs201418203 GRCh37: 11:822389-822389
GRCh38: 11:822389-822389
30 PNPLA2 NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe) SNV Conflicting interpretations of pathogenicity 306305 rs137866968 GRCh37: 11:824042-824042
GRCh38: 11:824042-824042
31 PNPLA2 NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) SNV Conflicting interpretations of pathogenicity 465789 rs139576982 GRCh37: 11:821676-821676
GRCh38: 11:821676-821676
32 PNPLA2 NM_020376.4(PNPLA2):c.425A>G (p.Asn142Ser) SNV Uncertain significance 465794 rs758738508 GRCh37: 11:821962-821962
GRCh38: 11:821962-821962
33 PNPLA2 NM_020376.4(PNPLA2):c.1487_1504del (p.Arg496_Ala501del) Deletion Uncertain significance 465787 rs747915336 GRCh37: 11:824829-824846
GRCh38: 11:824829-824846
34 PNPLA2 NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly) SNV Uncertain significance 465802 rs772421048 GRCh37: 11:823843-823843
GRCh38: 11:823843-823843
35 PNPLA2 NM_020376.4(PNPLA2):c.1447G>C (p.Gly483Arg) SNV Uncertain significance 465785 rs557790601 GRCh37: 11:824794-824794
GRCh38: 11:824794-824794
36 PNPLA2 NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe) SNV Uncertain significance 465799 rs759976184 GRCh37: 11:819803-819803
GRCh38: 11:819803-819803
37 PNPLA2 NM_020376.4(PNPLA2):c.752G>A (p.Arg251Gln) SNV Uncertain significance 465798 rs988744471 GRCh37: 11:823582-823582
GRCh38: 11:823582-823582
38 PNPLA2 NM_020376.4(PNPLA2):c.310_311delinsAT (p.Ala104Ile) Indel Uncertain significance 465791 rs1554975650 GRCh37: 11:821750-821751
GRCh38: 11:821750-821751
39 PNPLA2 NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly) SNV Uncertain significance 465784 rs765640246 GRCh37: 11:824762-824762
GRCh38: 11:824762-824762
40 PNPLA2 NM_020376.4(PNPLA2):c.128T>G (p.Ile43Ser) SNV Uncertain significance 465783 rs1290433318 GRCh37: 11:819846-819846
GRCh38: 11:819846-819846
41 PNPLA2 NM_020376.4(PNPLA2):c.697-3C>T SNV Uncertain significance 465796 rs1250160278 GRCh37: 11:823524-823524
GRCh38: 11:823524-823524
42 PNPLA2 NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp) SNV Uncertain significance 465788 rs371871714 GRCh37: 11:821675-821675
GRCh38: 11:821675-821675
43 PNPLA2 NM_020376.4(PNPLA2):c.326A>G (p.His109Arg) SNV Uncertain significance 306294 rs200683247 GRCh37: 11:821766-821766
GRCh38: 11:821766-821766
44 PNPLA2 NM_020376.4(PNPLA2):c.953T>C (p.Leu318Pro) SNV Uncertain significance 465803 rs775075567 GRCh37: 11:824031-824031
GRCh38: 11:824031-824031
45 PNPLA2 NM_020376.4(PNPLA2):c.-31C>T SNV Uncertain significance 306292 rs371274033 GRCh37: 11:819688-819688
GRCh38: 11:819688-819688
46 PNPLA2 NM_020376.4(PNPLA2):c.-145-11C>T SNV Uncertain significance 306289 rs886048707 GRCh37: 11:819563-819563
GRCh38: 11:819563-819563
47 PNPLA2 NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) SNV Uncertain significance 306306 rs373114735 GRCh37: 11:824528-824528
GRCh38: 11:824528-824528
48 PNPLA2 NM_020376.4(PNPLA2):c.*567G>C SNV Uncertain significance 306315 rs143923514 GRCh37: 11:825429-825429
GRCh38: 11:825429-825429
49 PNPLA2 NM_020376.4(PNPLA2):c.*302G>A SNV Uncertain significance 306312 rs189155123 GRCh37: 11:825164-825164
GRCh38: 11:825164-825164
50 PNPLA2 NM_020376.4(PNPLA2):c.826G>C (p.Asp276His) SNV Uncertain significance 306301 rs886048709 GRCh37: 11:823762-823762
GRCh38: 11:823762-823762

UniProtKB/Swiss-Prot genetic disease variations for Neutral Lipid Storage Disease with Myopathy:

72
# Symbol AA change Variation ID SNP ID
1 PNPLA2 p.Pro195Leu VAR_032995 rs121918259

Expression for Neutral Lipid Storage Disease with Myopathy

Search GEO for disease gene expression data for Neutral Lipid Storage Disease with Myopathy.

Pathways for Neutral Lipid Storage Disease with Myopathy

Pathways related to Neutral Lipid Storage Disease with Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Regulation of lipolysis in adipocytes hsa04923

GO Terms for Neutral Lipid Storage Disease with Myopathy

Sources for Neutral Lipid Storage Disease with Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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